PCMTD1
protein-L-isoaspartate (D-aspartate) O-methyltransferase domain containing 1
Summary
Enables ubiquitin-like ligase-substrate adaptor activity. Involved in protein ubiquitination. Part of Cul5-RING ubiquitin ligase complex. [provided by Alliance of Genome Resources, Jul 2025]
Known Variants11 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs975789180 | 8:52,732,966 | T/A | — | uncertain significance |
| rs2037833671 | 8:52,733,204 | C/G | — | uncertain significance |
| rs749921649 | 8:52,733,243 | G/A | — | uncertain significance |
| rs1404898056 | 8:52,744,033 | T/A | — | uncertain significance |
| rs1323622994 | 8:52,744,072 | G/T | — | uncertain significance |
| rs10504130 | 8:52,757,093 | G/A | regulatory region variant | — |
| rs375647256 | 8:52,758,262 | T/G | — | uncertain significance |
| rs7011046 | 8:52,782,553 | C/G | regulatory region variant | — |
| rs2395827 | 8:52,786,700 | C/T | intron variant | — |
| rs374522377 | 8:52,792,598 | A/T | — | — |
| rs13263909 | 8:52,811,758 | C/A | — | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.